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Table 2 Disease mutation distribution by channel region

From: Evolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations

Region

HERG

KCNQ1

N-term

6%

2%

PAS

21%

NA

VSD

9%

11%

ICL

3%

20%

ECL

23%

6%

Pore

23%

29%

C-term

15%

32%

  1. PAS = Per-Arnt-Sim domain in HERG, N-term = N-terminal region used in analysis (excluding PAS domain in HERG), ECL = extracellular linker regions between S1–S2, S3–S4, S5-P loop and P-loop-S6, ICL = intracellular linker regions between S2–S3 and S4–S5, VSD = voltage sensing domain (only transmembrane portions), Pore = pore region including S5, P-loop and S6, C-term = C-terminal portion of channels used in this analysis.
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BMC Ecology and Evolution

ISSN: 2730-7182

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